Abstract |
We have identified the mutations in the iduronate-2-sulfatase (IDS) gene of five unrelated Norwegians with Hunter syndrome by reverse transcription-polymerase chain reaction (RT-PCR) analysis of IDS mRNA followed by single strand conformation polymorphism (SSCP) analysis and cDNA sequencing. One patient had a 5-bp deletion, located at the intron 5/exon 6 junction, that created a new alternative splice site. This expanded the deletion to 9 bp in mRNA, an in-frame deletion of the first 3 codons of exon 6 of the IDS gene. In two patients point mutations were identified, the S333L mutation, which has been reported previously, and A346D (a C-->A transversion at nucleotide 1161/exon 8), which is novel. Two patients had large 3' mRNA rearrangements. The A346D mutation was associated with the mild phenotype, all others with the severe form.
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Authors | T C Olsen, H G Eiken, P M Knappskog, B F Kase, J E Månsson, H Boman, J Apold |
Journal | Human genetics
(Hum Genet)
Vol. 97
Issue 2
Pg. 198-203
(Feb 1996)
ISSN: 0340-6717 [Print] Germany |
PMID | 8566953
(Publication Type: Journal Article)
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Chemical References |
- DNA, Complementary
- Iduronate Sulfatase
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Topics |
- Adolescent
- Adult
- Alternative Splicing
- Base Sequence
- Child
- DNA Mutational Analysis
- DNA, Complementary
(genetics)
- Genes
(genetics)
- Humans
- Iduronate Sulfatase
(genetics)
- Molecular Sequence Data
- Mucopolysaccharidosis II
(genetics)
- Mutation
(genetics)
- Norway
- Polymerase Chain Reaction
(methods)
- Polymorphism, Single-Stranded Conformational
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